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Hprt1tm1Detl
Targeted Allele Detail
Summary
Symbol: Hprt1tm1Detl
Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 1, Peter J Detloff
MGI ID: MGI:1861939
Synonyms: hprt(CAG)146, JO1
Gene: Hprt1  Location: ChrX:52077014-52110536 bp, + strand  Genetic Position: ChrX, 29.31 cM, cytoband A6
Alliance: Hprt1tm1Detl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:44728
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsA construct was created that introduced a long CAG repeat (n=146 units) into an Xho1 site in exon 3 of a genomic fragment of the locus. An additional 4.9kb genomic fragment, which included exon 4 of the gene, was added to this repeat-containing construct. Appropriately targeted clones had sequences containing the 146-unit CAG repeat, encoding a stretch of 146 glutamines, in place of wild-type exon 3. (J:44728)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hprt1 Mutation:  1279 strains or lines available
References
Original:  J:44728 Ordway JM, et al., Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell. 1997 Dec 12;91(6):753-63
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory